Canonical Allele Identifier: CA442641249

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1264235942
• gnomAD v2: 4-187131762-C-T
• gnomAD v4: 4-186210608-C-T
• MyVariant Identifiers: chr4:g.187131762C>T (hg19) ; chr4:g.186210608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210608C>T , CM000666.2:g.186210608C>T	GRCh38
NC_000004.11:g.187131762C>T , CM000666.1:g.187131762C>T	GRCh37
NC_000004.10:g.187368756C>T	NCBI36
NG_007965.1:g.24089C>T
NG_012095.2:g.6630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1545C>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile515=
ENST00000378802.4:c.1545C>T (CYP4V2)	ENSP00000368079.4:p.Ile515=
ENST00000502665.1:n.780C>T (CYP4V2)
ENST00000507209.5:n.6243C>T (CYP4V2)
ENST00000511608.5:c.201+1336C>T (KLKB1)
ENST00000513354.5:n.635C>T (CYP4V2)
NM_207352.3:c.1545C>T (CYP4V2)	NP_997235.3:p.Ile515=
XM_005262935.2:c.1542C>T (CYP4V2)	XP_005262992.1:p.Ile514=
XM_006714184.2:c.1149C>T (CYP4V2)	XP_006714247.1:p.Ile383=
XM_005262935.4:c.1542C>T (CYP4V2)	XP_005262992.1:p.Ile514=
XM_017008037.1:c.1149C>T (CYP4V2)	XP_016863526.1:p.Ile383=
NM_207352.4:c.1545C>T (CYP4V2) MANE Select	NP_997235.3:p.Ile515=